TTN c.49794G>A ;(p.W16598*)

Variant ID: 2-179477654-C-T

NM_001267550.1(TTN):c.49794G>A;(p.W16598*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Orphanet Journal Of Rare Diseases
Schuermans, Nika N; Hemelsoet, Dimitri D; Terryn, Wim W; Steyaert, Sanne S; Van Coster, Rudy R; Coucke, Paul J PJ; Steyaert, Wouter W; Callewaert, Bert B; Bogaert, Elke E; Verloo, Patrick P; Vanlander, Arnaud V AV; Debackere, Elke E; Ghijsels, Jody J; LeBlanc, Pontus P; Verdin, Hannah H; Naesens, Leslie L; Haerynck, Filomeen F; Callens, Steven S; Dermaut, Bart B; Poppe, Bruce B; ,
Publication Date: 2022-05-23

Variant appearance in text: TTN: Trp16598Ter
PubMed Link: 35606766
Variant Present in the following documents:
  • Main text
  • 13023_2022_Article_2365.pdf
View BVdb publication page